| 基因名 | 突变 |
|---|---|
| DTX1(NM_004416,deltex homolog 1 (Drosophila),620aa) | g.12:113532684C>T,c.1318C>T,p.R440C |
| DTX1(NM_004416,deltex homolog 1 (Drosophila),620aa) | g.12:113532663G>A,c.1297G>A,p.V433M |
| DTX1(NM_004416,deltex homolog 1 (Drosophila),620aa) | g.12:113515832C>A,c.863C>A,p.T288N |
| DTX1(NM_004416,deltex homolog 1 (Drosophila),620aa) | g.12:113496026T>C,c.29T>C,p.M10T |
| DTWD2(NM_173666,DTW domain containing 2,298aa) | g.5:118324188C>A,c.19G>T,p.A7S |
| DTWD2(NM_173666,DTW domain containing 2,298aa) | g.5:118324113G>C,c.94C>G,p.R32G |
| DTWD2(NM_173666,DTW domain containing 2,298aa) | g.5:118264366C>T,c.463G>A,p.A155T |
| DTWD2(NM_173666,DTW domain containing 2,298aa) | g.5:118264309T>C,c.520A>G,p.I174V |
| DTWD2(NM_173666,DTW domain containing 2,298aa) | g.5:118264246G>A,c.583C>T,p.R195X |
| DTWD2(NM_173666,DTW domain containing 2,298aa) | g.5:118183865G>A,c.646C>T,p.P216S |
| DTWD2(NM_173666,DTW domain containing 2,298aa) | g.5:118176772C>T,c.737G>A,p.R246H |
| DTWD1(NM_020234,DTW domain containing 1,304aa) | g.15:49926779T>C,c.455T>C,p.I152T |
| DTWD1(NM_020234,DTW domain containing 1,304aa) | g.15:49917618C>T,c.254C>T,p.P85L |
| DTWD1(NM_020234,DTW domain containing 1,304aa) | g.15:49917501T>C,c.137T>C,p.V46A |
| DTWD1(NM_020234,DTW domain containing 1,304aa) | g.15:49917401G>A,c.37G>A,p.E13K |
| DTNBP1(NM_183040,dystrobrevin binding protein 1,303aa) | g.6:15652340C>T,c.88G>A,p.A30T |
| DTNBP1(NM_183040,dystrobrevin binding protein 1,303aa) | g.6:15638035C>G,c.162G>C,p.R54S |
| DTNBP1(NM_183040,dystrobrevin binding protein 1,303aa) | g.6:15533469G>A,c.667+2C>T,p.223Donor |
| DTNBP1(NM_183040,dystrobrevin binding protein 1,303aa) | g.6:15524679G>A,c.889C>T,p.H297Y |
| DTNBP1(NM_183040,dystrobrevin binding protein 1,303aa) | g.6:15524661C>T,c.907G>A,p.A303T |
| DTNB(NM_021907,dystrobrevin, beta,627aa) | g.2:25861939C>T,c.92G>A,p.R31Q |
| DTNB(NM_021907,dystrobrevin, beta,627aa) | g.2:25818974C>T,c.584G>A,p.R195H |
| DTNB(NM_021907,dystrobrevin, beta,627aa) | g.2:25754408G>A,c.935C>T,p.T312M |
| DTNB(NM_021907,dystrobrevin, beta,627aa) | g.2:25705735G>A,c.1009C>T,p.R337C |
| DTNB(NM_021907,dystrobrevin, beta,627aa) | g.2:25705734C>T,c.1010G>A,p.R337H |
| DTNB(NM_021907,dystrobrevin, beta,627aa) | g.2:25678308C>T,c.1135G>A,p.A379T |
| DTNB(NM_021907,dystrobrevin, beta,627aa) | g.2:25678275G>A,c.1168C>T,p.R390C |
| DTNB(NM_021907,dystrobrevin, beta,627aa) | g.2:25655839C>T,c.1373G>A,p.R458H |